Abstract
Down Syndrome (DS) is the most frequent genetic cause of intellectual disability with a wide spectrum of neurodevelopmental outcomes. At present, the relationship between structural brain morphology and the spectrum of cognitive phenotypes in DS, is not well understood. This study aimed to quantify the development of the fetal and neonatal brain in DS participants, with and without a congenital cardiac defect compared with a control population using dedicated, optimised and motion-corrected in vivo magnetic resonance imaging (MRI). We detected deviations in development and altered regional brain growth in the fetus with DS from 21 weeks' gestation, when compared to age-matched controls. Reduced cerebellar volume was apparent in the second trimester with significant alteration in cortical growth becoming evident during the third trimester. Developmental abnormalities in the cortex and cerebellum are likely substrates for later neurocognitive impairment, and ongoing studies will allow us to confirm the role of antenatal MRI as an early biomarker for subsequent cognitive ability in DS. In the era of rapidly developing technologies, we believe that the results of this study will assist counselling for prospective parents.
Highlights
Down Syndrome (DS) is the most common genetic cause of intellectual disability, occurring as a result of triplication of a genomic region on human chromosome 21 (Trisomy 21; T21) (Holtzman, 1996; Antonarakis et al, 2004)
50% of DS babies are born with a congenital heart defect (CHD), the most common of which are endocardial cushion defects, including atrioventricular septal defects (AVSD; 45%) and ventricular septal defects (VSD; 35%) (Hyett et al, 1996; Roizen and Patterson, 2003; Sherman et al, 2007; Bergstrom et al, 2016)
Using state-of-the-art in vivo MR imaging, we have identified quantifiable alterations from 21 weeks’ gestation in brain development of fetuses and neonates with DS
Summary
Down Syndrome (DS) is the most common genetic cause of intellectual disability, occurring as a result of triplication of a genomic region on human chromosome 21 (Trisomy 21; T21) (Holtzman, 1996; Antonarakis et al, 2004). 50% of DS babies are born with a congenital heart defect (CHD), the most common of which are endocardial cushion defects, including atrioventricular septal defects (AVSD; 45%) and ventricular septal defects (VSD; 35%) (Hyett et al, 1996; Roizen and Patterson, 2003; Sherman et al, 2007; Bergstrom et al, 2016). The presence of cardiac disease is associated with a poorer outcome, as observed in typically developing children with CHD, where studies have shown deficits in neurocognitive, motor and psychosocial skills (Razzaghi et al, 2015). Children with DS who have an AVSD have been shown to have poorer gross motor skills, cognition and lower scores in expressive and receptive vocabulary, as compared to DS children with a structurally normal heart (Visootsak et al, 2011, 2013, 2016).
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